The dentate nucleus in Friedreich's ataxia: The role of iron-responsive proteins

Acta Neuropathologica

Volumn 114, Issue 2, 2007, Pages 163-173

  Koeppen, Arnulf H ^a   Michael, Susan C ^a   Knutson, Mitchell D ^c   Haile, David J ^d   Qian, Jiang ^a,b   Levi, Sonia ^e,f   Santambrogio, Paolo ^e   Garrick, Michael D ^g   Lamarche, Jacques B ^a,h  

^a STRATTON VA MEDICAL CENTER   (United States)

^b ALBANY MEDICAL COLLEGE   (United States)

^c UNIVERSITY OF FLORIDA   (United States)

^d UNIVERSITY OF TEXAS HEALTH SCIENCE CENTER AT SAN ANTONIO   (United States)

^e SAN RAFFAELE HOSPITAL   (Italy)

^f VITA SALUTE SAN RAFFAELE UNIVERSITY   (Italy)

^g UNIVERSITY AT BUFFALO   (United States)

^h CENTRE HOSPITALIER UNIVERSITAIRE DE SHERBROOKE   (Canada)

Author keywords

Atrophy; Dentate nucleus; Ferritin; Ferroportin; Friedreich's ataxia; Iron; Synapses

Indexed keywords

CARRIER PROTEIN; CD71 ANTIGEN; FERRITIN; FRATAXIN; IRON; MITOCHONDRIAL PROTEIN;

ADULT; AGED; ARTICLE; ASTROCYTE; BIOCHEMISTRY; CELL LOSS; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DENDRITE; DENTATE NUCLEUS; ENDOCRINE DISEASE; ENDOTHELIUM CELL; FEMALE; FRIEDREICH ATAXIA; HEART DISEASE; HUMAN; HUMAN TISSUE; IMMUNOCYTOCHEMISTRY; IRON METABOLISM; MALE; MICROSCOPY; MITOCHONDRIAL RESPIRATION; NERVE CELL; NERVE DEGENERATION; NERVE ENDING; NERVE FIBER; NEUROLOGIC DISEASE; NEUROPIL; OLIGODENDROGLIA; PATHOGENESIS; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN DEFICIENCY; PURKINJE CELL; WESTERN BLOTTING;

ADOLESCENT; ADULT; AGE OF ONSET; AGED; ANTIGENS, CD; BLOTTING, WESTERN; BRAIN CHEMISTRY; CATION TRANSPORT PROTEINS; CEREBELLAR NUCLEI; CHILD; FEMALE; FERRITINS; FRIEDREICH ATAXIA; HUMANS; IMMUNOHISTOCHEMISTRY; IRON; MALE; NERVE DEGENERATION; RECEPTORS, TRANSFERRIN;

EID: 34547119562     PISSN: 00016322     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00401-007-0220-y     Document Type: Article

References (33)

1. Abboud S, Haile DJ (2000) A novel mammalian iron-regulated protein involved in intracellular iron metabolism. J Biol Chem 275:19906-19912
2. Aguirre P, Mena N, Tapia V, Arrendondo M, Nuñez MT (2005) Iron homeostasis in neuronal cells: A role for IREG1. BMC Neurosci 6:3
3. Campuzano V, Montermini L, Molto MD, Pianese L, Cossee M, Cavalcanti F, Monros E, Rodius F, Duclos F, Monticelli A, Zara F, Canizares J, Koutnikova H, Bidichandani SI, Gellera C, Brice A, Trouillas P, De Michele G, Filla A, De Frutos R, Palau F, Patel PI, Di Donato S, Mandel JL, Cocozza S, Koenig M, Pandolfo M (1996) Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science 271:1423-1427
4. Donovan A, Brownlie A, Zhou Y, Shepard J, Pratt SJ, Moynihan J, Paw BH, Drejer A, Barut B, Zapata A, Law TC, Brugnara C, Lux SE, Pinkus GS, Pinkus JL, Kingsley PD, Palis J, Fleming MD, Andrews NC, Zon LI (2000) Positional cloning of zebrafish ferroportin1 identifies a conserved vertebrate iron exporter. Nature 403:776-781
5. Filla A, De Michele G, Cavalcanti F, Pianese L, Monticelli A, Campanella G, Cocozza S (1996) The relationship between trinucleotide (GAA) repeat length and clinical features in Friedreich ataxia. Am J Hum Genet 59:554-560
6. Garrick MD, Dolan KG, Horbinski C, Ghio AJ, Higgins D, Porubcin M, Moore EG, Hainsworth LN, Umbreit JN, Conrad ME, Feng L, Lis A, Roth JA, Singleton S, Garrick LM (2003) DMT1: A mammalian transporter for multiple metals. BioMetals 16:41-54
7. Hahn P, Dentchev T, Qian Y, Roault F, Harris ZL, Dunaief JL (2004) Immunolocalization and regulation of iron handling proteins ferritin and ferroportin in the retina. Mol Vis 10:598-607
8. Hallgren B, Sourander P (1958) The effect of age on the non-haemin iron in the human brain. J Neurochem 3:41-51
9. Ishizawa K, Lin W-L, Tiseo P, Hone WG, Davies P, Dickson DW (2000) A qualitative and quantitative study of grumose degeneration in progressive supranuclear palsy. J Neuropathol Exp Neurol 59:513-524
10. Kaneko Y, Kitamoto J, Tateishi J, Yamaguchi K (1989) Ferritin immunohistochemistry as a marker for microglia. Acta Neuropathol (Berlin) 79:129-136
11. Knutson MD, Oukka M, Koss LM, Aydemir FD, Wessling-Resnick M (2005) Iron release from macrophages after erythrophagocytosis is up-regulated by ferroportin 1 overexpression and down-regulated by hepcidin. Proc Natl Acad Sci USA 102:1324-1328
12. Koeppen AH (1991) The Purkinje cell and its afferents in human hereditary ataxia. J Neuropathol Exp Neurol 50:505-514
13. Koeppen AH (1998) The hereditary ataxias. J Neuropathol Exp Neurol 57:531-543
14. Koeppen AH (2002) Neuropathology of the inherited ataxias. In: Manto M-U, Pandolfo M (eds) The cerebellum and its disorders. Cambridge University Press, Cambridge, pp 387-405
15. Koeppen AH, Dentinger MP (1988) Brain hemosiderin and superficial siderosis of the central nervous system. J Neuropathol Exp Neurol 47:249-270
16. Koeppen AH, Turok DI (1992) The cerebellar cortex and the dentate nucleus in hereditary ataxia. In: Plaitakis A (ed) Cerebellar degenerations: Clinical neurobiology. Kluwer, Boston, pp 205-236
17. Koeppen AH, Dickson AC (2002) Tin-protoporphyrin prevents experimental superficial siderosis in rabbits. J Neuropathol Exp Neurol 61:689-701
18. Koeppen AH, Dickson AC, Lamarche JB, Robitaille Y (1999) Synapses in the hereditary ataxias. J Neuropathol Exp Neurol 58:748-764
19. Lamarche JB, Côté M, Lemieux B (1980) The cardiomyopathy of Friedreich's ataxia. Morphological observations in 3 cases. Can J Neurol Sci 7:389-396
20. Levi S, Corsi B, Bosisio M, Invernizzi R, Volz A, Sanford D, Arosio P, Drysdale J (2001) A human mitochondrial ferritin encoded by an intronless gene. J Biol Chem 276:24437-24440
21. McKie AT, Marciani P, Rolfs A, Brennan K, Wehr K, Barrow D, Miret S, Bomford A, Peters TJ, Farzaneh F, Hediger MA, Hentze MW, Simpson RJ (2000) A novel duodenal iron-regulated transporter, IREG1, implicated in the basolateral transfer of iron to the circulation. Mol Cell 5:299-309
22. Michael S, Petrocine SV, Qian J, Lamarche JB, Knutson MD, Garrick MD, Koeppen AH (2006) Iron and iron-responsive proteins in the cardiomyopathy of Friedreich's ataxia. Cerebellum 5:257-267
23. Moos T, Rosengren Nielsen T (2006) Ferroportin in the postnatal rat brain: Implications for axonal transport and neuronal export of iron. Semin Pediatr Neurol 13:149-157
24. Mott FW (1907) Case of Friedreich's disease, with autopsy and systematic microscopical examination of the nervous system. Arch Neurol Psychiatr 3:180-200
25. Oppenheimer DR (1979) Brain lesions in Friedreich's ataxia. Can J Neurol Sci 6:173-176
26. Rötig A, de Lonlay P, Chretien D, Foury F, Koenig M, Sidi D, Munnich A, Rustin P (1997) Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich ataxia. Nat Genet 17:215-217
27. Rossi F, Gianola S, Corvetti L (2006) The strange case of Purkinje axon regeneration and plasticity. Cerebellum 5:174-182
28. Roth JA, Horbinski C, Feng L, Dolan KG, Higgins D, Garrick MD (2000) Differential localization of divalent metal transporter 1 with and without iron response element in rat PC12 and sympathetic neuronal cells. J Neurosci 20:7595-75601
29. Spatz H (1922) Über den Eisennachweis im Gehirn, besonders in Zentren des extrapyramidal-motorischen Systems. Z Ges Neurol Psychiat 77:261-390
30. Urich H, Normal RM, Lloyd OC (1957) Suprasegmental lesions in Friedreich's ataxia. Confin Neurol 17:360-371
31. Waldvogel D, van Gelderen P, Hallett M (1999) Increased iron in the dentate nucleus of patients with Friedreich's ataxia. Ann Neurol 46:123-125
32. Wu LJ, Leenders AG, Cooperman S, Meyron-Holtz E, Smith S, Land W, Tsai RY, Berger UV, Sheng ZH, Rouault TA (2004) Expression of the iron transporter ferroportin in synaptic vesicles and the blood-brain barrier. Brain Res 1001:108-117
33. Yoon T, Cowan JA (2004) Frataxin-mediated iron delivery to ferrochelatase in the final step of heme biosynthesis. J Biol Chem 279:25943-25946